Hereditary spastic paraplegia
Gene: SPG11
The most common cause of complex HSP. Four less common distinct phenotypes have also been associated with SPG11 mutations, including Kjellin syndrome (Puech et al. , 2011, Nowak et al. , 2014), slowly progressive amyotrophic lateral sclerosis (Orlacchio et al. , 2010, Daoud et al. , 2012), syndromes reminiscent of dystonia-parkinsonism (Paisan-Ruiz et al. , 2010, Kara et al. , 2013) and syndromes with prominent L-dopa responsive parkinsonism (Anheim et al. , 2009, Everett et al. , 2012).Created: 13 Jan 2016, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
complex HSP (HSP associated with learning difficulties, ataxia, dysarthria, neuropathy, optic atrophy -with brain MRI showing THIN CORPUS CALLOSUM, White matter abnormalities)
Mode of pathogenicity
Other
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SPG11 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG11 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG11 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG11 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG11 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG11 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG11 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG11 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG11 was changed to BIALLELIC, autosomal or pseudoautosomal
SPG11 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene SPG11 was changed to BIALLELIC, autosomal or pseudoautosomal
SPG11 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene SPG11 was changed to BIALLELIC, autosomal or pseudoautosomal
SPG11 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
SPG11 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen